Center for Genomic and Regenerative Medicine, Juntendo University Graduate School of Medicine, Tokyo, Japan; Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan; Department of Research and Development for Organoids, Juntendo University School of Medicine, Tokyo, Japan.
Center for Genomic and Regenerative Medicine, Juntendo University Graduate School of Medicine, Tokyo, Japan.
Stem Cell Res. 2024 Feb;74:103296. doi: 10.1016/j.scr.2023.103296. Epub 2023 Dec 23.
Parkinson's disease is the second most common neurodegenerative disorder and is pathologically characterized by synuclein-rich aggregations (Lewy bodies) in neurons. Multiplication of the synuclein gene (SNCA) increases the mRNA and protein levels of synuclein, resulting in autosomal dominant hereditary Parkinson's disease. In the present study, we established three isogenic induced pluripotent stem cells (iPSCs) from a patient harboring SNCA duplication, which showed pluripotency, three-germ layer differentiation capacity, and normal karyotypes.
帕金森病是第二常见的神经退行性疾病，其病理学特征为神经元中富含突触核蛋白的聚集物（路易体）。突触核蛋白基因（SNCA）的倍增会增加突触核蛋白的 mRNA 和蛋白水平，导致常染色体显性遗传性帕金森病。在本研究中，我们从携带 SNCA 重复的患者中建立了三个同基因诱导多能干细胞（iPSC），它们显示出多能性、三个胚层分化能力和正常核型。
